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Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology

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Mitochondrial Oxidative Phosphorylation

Part of the book series: Advances in Experimental Medicine and Biology ((volume 748))

Abstract

Mitochondrial disorders are clinical syndromes associated with ­abnormalities of the oxidative phosphorylation (OXPHOS) system, the main responsible for the production of energy in the cell. OXPHOS is carried out in the inner mitochondrial membrane by the five enzymatic complexes of the mitochondrial respiratory chain (MRC). The subunits constituting these multimeric complexes have a dual genetic origin, mitochondrial or nuclear. Hence, mitochondrial syndromes can be due to mutations of mitochondrial DNA or to abnormalities in nuclear genes. The biogenesis of the MRC complexes is an intricate and finely tuned process. The recent discovery of several OXPHOS-related human genes, mutated in different clinical syndromes, indicates that the majority of the inherited mitochondrial disorders are due to nuclear genes, and many of them encode proteins necessary for the proper assembly/stability of the MRC complexes. The detailed mechanisms of these processes are not fully understood and the exact function of many such factors remains obscure.

We present an overview on the hypothesized assembly processes of the different MRC complexes, focusing on known assembly factors and their clinical importance.

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Acknowledgments

This work was supported by Fondazione Telethon-Italy (grants GGP11011 and GPP10005 to MZ), Fondazione CARIPLO (grant 2011/0526), the Italian Association of Mitochondrial Disease Patients and Families (Mitocon) and Fondazione Pierfranco e Luisa Mariani (Ricerca 2000 grant to MZ).

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  1. Unit of Molecular Neurogenetics, The Foundation “Carlo Besta” Institute of Neurology, Milan, Italy

    Daniele Ghezzi & Massimo Zeviani

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  1. Daniele Ghezzi
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  2. Massimo Zeviani
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Correspondence to Massimo Zeviani .

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  1. Philipps-Universitaet Marburg, Marburg, 35032, Germany

    Bernhard Kadenbach

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Ghezzi, D., Zeviani, M. (2012). Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology. In: Kadenbach, B. (eds) Mitochondrial Oxidative Phosphorylation. Advances in Experimental Medicine and Biology, vol 748. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3573-0_4

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